Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA658801085

Gene: CYP27B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522958

ClinVar RCV Id: RCV000626155 RCV001860473

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000776.1:p.Arg459Cys	CA6658143 NM_000785.4:c.1375C>T